Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Q1814*
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NF1

NM_000267.3:p.Q1814*

Associated Papers

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.

Li H et al.

Plos One, 2026

41564118 (PubMed )
Supplement: pone.0340183.s017.pdf

Co-existence of 2 clinically significant variants causing disorders of somatic mosaicism.

Cao Y et al.

Genetics in Medicine Open, 2023

Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.

Ha C et al.

Genes, 2021

34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet2.docx
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."